PRENATAL SCREENING AND DIAGNOSIS OF THALASSEMIA: PREVENTING THALASSEMIC BIRTHS
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Keywords
Thalassemia, Antenatal Screening, Prenatal Diagnosis, Hemoglobinopathies, β- thalassemia Trait, Pregnancy
Abstract
Thalassemia is one of the most common hereditary disorders in India. Early antenatal screening, spousal testing, and prenatal diagnosis (PND) are key strategies to prevent thalassemia major births.
Objectives: To assess the role of antenatal screening, spousal testing, and PND in identifying carrier couples and reducing thalassemia major births.
Methods: A cross-sectional study was conducted at RNT Medical College, Udaipur, including 1,280 pregnant women in the first and early second trimester. Screening was done using high- performance liquid chromatography (HPLC). Carrier women were advised spousal testing; at- risk couples were offered PND through chorionic villi sampling (CVS) or amniocentesis.
Results: The total 1,280 pregnant women were screened, of wich 92 (7.2%) were identified as carriers. The most common abnormality was beta-thalassemia trait (5.0%), followed by sickle cell trait (1.25%) and rare variants such as Hb-D, Hb-E, Hb-C, and alfa-thalassemia. Among 68 spouses tested, 5 (7.4%) had beta-thalassemia trait and 1 (1.5%) had sickle cell trait. Five couples were classified as “at risk”; four underwent prenatal diagnosis, which detected one fetus with thalassemia major, two with thalassemia minor, and one normal fetus. The acceptance rate of prenatal testing was 80%. Conclusion: Antenatal screening with spousal testing and PND is feasible and effective in preventing thalassemia major births. Integration of such programs into routine maternal care, especially in high-prevalence tribal areas, is essential.
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Dr. Mahendra Kumar Yadav
Post Graduate Student, Department of Pediatrics, RNT Medical College & MBGH Hospital, Udaipur, Rajasthan, India
Dr. Rameshwar Lal Suman
Senior Professor and Head, Department of Pediatrics, RNT Medical College & MBGH Hospital, Udaipur, Rajasthan, India
Dr. Jai Singh
Principal Specialist Pediatrics District Hospital & GMC Chittorgarh Rajasthan
Dr. Himani Dendor
Post Graduate Student, Department of Pediatrics, RNT Medical College & MBGH Hospital, Udaipur, Rajasthan, India
Dr Mukesh Kumar Jat
Senior Resident, Department of Pediatrics, RNT Medical College & MBGH Hospital, Udaipur, Rajasthan, India
Dr. Nimilika Meena
Senior Resident, Department of Pediatrics, RNT Medical College & MBGH Hospital, Udaipur, Rajasthan, India
Dr Amal Raj
Senior Resident, Department of Pediatrics, RNT Medical College & MBGH Hospital, Udaipur, Rajasthan, India
Dr Jatin Prajapati
Senior Resident, Department of Community Medicine, World College of Medical Sciences and Research, Jhajjar, Haryana, India
